| The EPIP Peptide of INFLORESCENCE DEFICIENT IN ABSCISSION Is Sufficient to Induce Abscission in Arabidopsis through the Receptor-Like Kinases HAESA … GE Stenvik, NM Tandstad, Y Guo, CL Shi, W Kristiansen, A Holmgren, ... The Plant Cell 20 (7), 1805-1817, 2008 | 310 | 2008 |
| A Dominant STIM 1 Mutation Causes S tormorken Syndrome D Misceo, A Holmgren, WE Louch, PA Holme, M Mizobuchi, RJ Morales, ... Human mutation 35 (5), 556-564, 2014 | 184 | 2014 |
| A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform T Barøy, J Koster, P Strømme, MS Ebberink, D Misceo, S Ferdinandusse, ... Human molecular genetics 24 (20), 5845-5854, 2015 | 88 | 2015 |
| Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration P Strømme, S Groeneweg, EC Lima de Souza, C Zevenbergen, ... Thyroid 28 (11), 1406-1415, 2018 | 72 | 2018 |
| Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions IM Wedding, J Koht, GT Tran, D Misceo, KK Selmer, A Holmgren, ... PloS one 9 (1), e86340, 2014 | 62 | 2014 |
| Exploring lithium’s transcriptional mechanisms of action in bipolar disorder: a multi-step study IA Akkouh, S Skrede, A Holmgren, KM Ersland, L Hansson, S Bahrami, ... Neuropsychopharmacology 45 (6), 947-955, 2020 | 33 | 2020 |
| STIM1 R304W causes muscle degeneration and impaired platelet activation in mice TH Gamage, G Gunnes, RH Lee, WE Louch, A Holmgren, JD Bruton, ... Cell Calcium 76, 87-100, 2018 | 27 | 2018 |
| A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13 T Barøy, CRJ Pedurupillay, YT Bliksrud, M Rasmussen, A Holmgren, ... European journal of medical genetics 59 (6-7), 342-346, 2016 | 27 | 2016 |
| Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms M Fannemel, T Barøy, A Holmgren, OK Rødningen, TM Haugsand, ... European journal of medical genetics 57 (9), 513-519, 2014 | 27 | 2014 |
| Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability T Barøy, D Misceo, P Strømme, A Stray-Pedersen, A Holmgren, ... Orphanet journal of rare diseases 8, 1-14, 2013 | 27 | 2013 |
| Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay M Ansar, S Riazuddin, MT Sarwar, P Makrythanasis, SA Paracha, Z Iqbal, ... Genetics in Medicine 20 (7), 778-784, 2018 | 26 | 2018 |
| Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype N Skauli, S Wallace, SCC Chiang, T Barøy, A Holmgren, ... Genes 7 (12), 108, 2016 | 26 | 2016 |
| Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B CRJ Pedurupillay, T Barøy, A Holmgren, A Blomhoff, MD Vigeland, ... American Journal of Medical Genetics Part A 167 (3), 657-663, 2015 | 24 | 2015 |
| Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder T Hughes, IE Sønderby, T Polushina, L Hansson, A Holmgren, ... Translational psychiatry 8 (1), 210, 2018 | 23 | 2018 |
| Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2 CRJ Pedurupillay, SS Amundsen, T Barøy, M Rasmussen, A Blomhoff, ... Neuromuscular Disorders 26 (9), 570-575, 2016 | 22 | 2016 |
| Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome D Epting, LDS Senaratne, E Ott, A Holmgren, D Sumathipala, SM Larsen, ... Human mutation 41 (12), 2179-2194, 2020 | 16 | 2020 |
| STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone TH Gamage, E Lengle, G Gunnes, H Pullisaar, A Holmgren, JE Reseland, ... Cell calcium 85, 102110, 2020 | 13 | 2020 |
| Genetic variations in the annexin A5 gene and the risk of pregnancy‐related venous thrombosis AEA Dahm, G Tiscia, A Holmgren, AF Jacobsen, G Skretting, E Grandone, ... Journal of Thrombosis and Haemostasis 13 (3), 409-413, 2015 | 11 | 2015 |
| Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain A Holmgren, L Hansson, K Bjerkaas-Kjeldal, AAR Impellizzeri, ... Translational Psychiatry 12 (1), 45, 2022 | 2 | 2022 |
| Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome D Misceo, LDS Senaratne, IL Mero, AYM Sundaram, PM Bjørnstad, ... Genes 14 (11), 1985, 2023 | 1 | 2023 |
